ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105360C>T (p.Thr35120=)

gnomAD frequency: 0.00001  dbSNP: rs904049980
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000940825 SCV001086693 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-09-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141900 SCV003824103 uncertain significance not provided 2020-06-29 criteria provided, single submitter clinical testing

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